spastic paraplegia 20 (Troyer syndrome)
The SPG20 gene provides instructions for producing a protein called spartin, whose function is not entirely understood. Researchers believe that spartin may be involved in a variety of cell functions, from breaking down proteins to transporting materials from the cell surface into the cell (endocytosis). Spartin is found in a wide range of body tissues, including the nervous system.
One mutation has been identified in people with Troyer syndrome. This mutation deletes a DNA building block (nucleotide) in the SPG20 gene. Specifically, this mutation deletes the nucleotide adenosine at position 1110 in the gene, written as 1110delA. This mutation results in an abnormally shortened, nonfunctioning spartin protein. It is unclear how this mutation causes the signs and symptoms of Troyer syndrome.
- spastic paraplegia 20
- spastic paraplegia 20, spartin (Troyer syndrome)
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